Difference between revisions of "Ochronosis"
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'''Ochronosis''' is a disease characterized by the accumulation of homogentisic acid | '''Ochronosis''' is a disease characterized by the accumulation of homogentisic acid. | ||
The endogenous form is genetic and autosomal recessive.<ref name=pmid20055850>{{Cite journal | last1 = Turgay | first1 = E. | last2 = Canat | first2 = D. | last3 = Gurel | first3 = MS. | last4 = Yuksel | first4 = T. | last5 = Baran | first5 = MF. | last6 = Demirkesen | first6 = C. | title = Endogenous ochronosis. | journal = Clin Exp Dermatol | volume = 34 | issue = 8 | pages = e865-8 | month = Dec | year = 2009 | doi = 10.1111/j.1365-2230.2009.03618.x | PMID = 20055850 | '''Alcaptonuria''' is a specific genetic defect that causes ochronosis.<ref>{{OMIM|203500}}</ref> | ||
==General== | |||
It is subclassified as: | |||
*Endogenous (genetic). | |||
*Exogenous. | |||
The endogenous form is genetic and autosomal recessive.<ref name=pmid20055850>{{Cite journal | last1 = Turgay | first1 = E. | last2 = Canat | first2 = D. | last3 = Gurel | first3 = MS. | last4 = Yuksel | first4 = T. | last5 = Baran | first5 = MF. | last6 = Demirkesen | first6 = C. | title = Endogenous ochronosis. | journal = Clin Exp Dermatol | volume = 34 | issue = 8 | pages = e865-8 | month = Dec | year = 2009 | doi = 10.1111/j.1365-2230.2009.03618.x | PMID = 20055850 }}</ref> | |||
==Gross== | ==Gross== | ||
*Tissue with blue-grey discolourization.<ref name=pmid21768245>{{Cite journal | last1 = Baeva | first1 = M. | last2 = Bueno | first2 = A. | last3 = Dhimes | first3 = P. | title = AIRP best cases in radiologic-pathologic correlation: ochronosis. | journal = Radiographics | volume = 31 | issue = 4 | pages = 1163-7 | month = | year = | doi = 10.1148/rg.314105175 | PMID = 21768245 }}</ref> | *Tissue with blue-grey discolourization.<ref name=pmid21768245>{{Cite journal | last1 = Baeva | first1 = M. | last2 = Bueno | first2 = A. | last3 = Dhimes | first3 = P. | title = AIRP best cases in radiologic-pathologic correlation: ochronosis. | journal = Radiographics | volume = 31 | issue = 4 | pages = 1163-7 | month = | year = | doi = 10.1148/rg.314105175 | PMID = 21768245 }}</ref> | ||
**Affected tissues: articular and auricular [[cartilage]], tendons, ligaments [[heart valves]], sclera, cornea. | **Affected tissues: articular and auricular [[cartilage]], tendons, ligaments [[heart valves]], [[sclera]], cornea. | ||
*Dark urine (after exposure to sunlight). | *Dark urine (after exposure to sunlight). | ||
Images: | |||
*[http://www.nejm.org/doi/full/10.1056/NEJMicm1111515 Ochronosis - eye (nejm.org)]. | |||
*[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470624/figure/f2-1841600/ Ochronosis - hip (nih.gov/CMAJ)]. | |||
==Microscopic== | |||
Features: | |||
*Deposits of (acellular) brown pigment (H&E sections) - '''key feature'''. | |||
**May be dark magenta. | |||
Images: | |||
*[http://radiographics.rsna.org/content/31/4/1163/F11.expansion.html Ochronosis - cartilage (rsna.org)].<ref name=pmid21768245/> | |||
*[http://radiographics.rsna.org/content/31/4/1163/F12.expansion.html Ochronosis - soft tissue (rsna.org)].<ref name=pmid21768245/> | |||
*[http://www.clinmedres.org/content/2/4/209/F1.expansion.html Ochronosis - aortic valve (clinmedres.org)].<ref name=pmid15931360>{{Cite journal | last1 = Fisher | first1 = AA. | last2 = Davis | first2 = MW. | title = Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review. | journal = Clin Med Res | volume = 2 | issue = 4 | pages = 209-15 | month = Nov | year = 2004 | doi = | PMID = 15931360 }}</ref> | |||
*[http://www.dermpedia.org/conference/wwwdermatopathologyconsultationscom?page=40 Ochronosis - skin (dermpedia.org)].<ref>URL: [http://www.dermpedia.org/conference/wwwdermatopathologyconsultationscom?page=40 http://www.dermpedia.org/conference/wwwdermatopathologyconsultationscom?page=40]. Accessed on: 1 February 2013.</ref> | |||
==See also== | |||
*[[Heart valves]]. | |||
*[[Joints]]. | |||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category:Weird stuff]] | [[Category:Weird stuff]] | ||
[[Category:Diagnosis]] | |||
Latest revision as of 15:02, 9 June 2016
Ochronosis is a disease characterized by the accumulation of homogentisic acid.
Alcaptonuria is a specific genetic defect that causes ochronosis.[1]
General
It is subclassified as:
- Endogenous (genetic).
- Exogenous.
The endogenous form is genetic and autosomal recessive.[2]
Gross
- Tissue with blue-grey discolourization.[3]
- Affected tissues: articular and auricular cartilage, tendons, ligaments heart valves, sclera, cornea.
- Dark urine (after exposure to sunlight).
Images:
Microscopic
Features:
- Deposits of (acellular) brown pigment (H&E sections) - key feature.
- May be dark magenta.
Images:
- Ochronosis - cartilage (rsna.org).[3]
- Ochronosis - soft tissue (rsna.org).[3]
- Ochronosis - aortic valve (clinmedres.org).[4]
- Ochronosis - skin (dermpedia.org).[5]
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 203500
- ↑ Turgay, E.; Canat, D.; Gurel, MS.; Yuksel, T.; Baran, MF.; Demirkesen, C. (Dec 2009). "Endogenous ochronosis.". Clin Exp Dermatol 34 (8): e865-8. doi:10.1111/j.1365-2230.2009.03618.x. PMID 20055850.
- ↑ 3.0 3.1 3.2 Baeva, M.; Bueno, A.; Dhimes, P.. "AIRP best cases in radiologic-pathologic correlation: ochronosis.". Radiographics 31 (4): 1163-7. doi:10.1148/rg.314105175. PMID 21768245.
- ↑ Fisher, AA.; Davis, MW. (Nov 2004). "Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review.". Clin Med Res 2 (4): 209-15. PMID 15931360.
- ↑ URL: http://www.dermpedia.org/conference/wwwdermatopathologyconsultationscom?page=40. Accessed on: 1 February 2013.